Orofacial manifestations in the Cri du Chat syndrome (5p-)

Abstract

INTRODUCTION The Cri du Chat syndrome (Crying Cat Syndrome) (Lejeune et al., 1963) is a rare chromosome abnormality characterized by a distinctive cry in association with orofacial anomalies, mental handicap and a number of other abnormalities. The four cases presented here appear to be the first reported in the dental literature. The Cri du Chat syndrome is a rare autosomal abnormality in which there is deletion of part of the short arm of chromosome 5, one of the B group of chromosomes, and the condition is therefore designated as 5 p(Lejeune et al., 1963, 1964; German et al., 1964; Miller et al., 1969b). While the majority of cases are due to simple deletions, some IO-15 per cent are due to translocations (de Capoa et al., 1967; Warburton and Miller, 1967) and a few are mosaics (Zellweger, 1966; Antich et al., 1968; Mennicken et al., 1968; Neuhauser et a1.,1968). It became apparent following the early case reports, that some patients, while having deletions of the short arm of a B group chromosome, had different phenotypes from the Cri du Chat syndrome. This group of patients was characterized by multiple midline fusion defects including palatal clefts, and it is now clear that the deletion is of the short arm of chromosome 4 (Hirschhorn and Cooper, 1961; Gustavson et al., 1964; Hirschhorn et al., 1965; Wolf et al., 1965). This latter syndrome is termed the Wolf-Hirschhorn syndrome (Wolf et al., 1965) which, although similar to the Cri du Chat syndrome, is a more severe anomaly (Polani, 1969). The Cri du Chat syndrome is a very rare condition. The prevalence in the general population is 1 in 50 000 to 1 in 100 000 (Polani, 1969) and even in the severely mentally handicapped population it is less than 1 per cent (Gorlin, 1974). The majority of patients are female (Taylor, 1967; Polani, 1969; Gorlin 1974) although this is less obvious in the older age groups (Polani, 1969; Breg et al., 1970). The aetiology of the chromosome anomaly is unknown and there is no parental age influence (Polani, 1969; Taylor, 1969; Goodman and Gorlin, 1977).